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Genetic causes of azoospermia include chromosomal abnormalities, Y chromosome microdeletions, and specific mutations\/deletions of several Y chromosome genes. Many researchers have analyzed genes in the <jats:styled-content style=\"fixed-case\">AZF<\/jats:styled-content> region on the Y chromosome; however, in 2003 the <jats:italic><jats:styled-content style=\"fixed-case\">SYCP<\/jats:styled-content>3<\/jats:italic> gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest through a point mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We mainly describe the <jats:italic><jats:styled-content style=\"fixed-case\">SYCP<\/jats:styled-content>3<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">PLK<\/jats:styled-content>4<\/jats:italic> genes that we have studied in our laboratory, and add comments on other genes associated with human male infertility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Up to now, The 17 genes causing male infertility by their mutation have been reported in human.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Infertility caused by nonobstructive azoospermia (<jats:styled-content style=\"fixed-case\">NOA<\/jats:styled-content>) is very important in the field of assisted reproductive technology. Even with the aid of chromosomal analysis, ultrasonography of the testis, and detailed endocrinology, only <jats:styled-content style=\"fixed-case\">MD<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">TESE<\/jats:styled-content> can confirm the presence of immature spermatozoa in the testes. We strongly hope that these studies help clinics avoid ineffective <jats:styled-content style=\"fixed-case\">MD<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">TESE<\/jats:styled-content> procedures.<\/jats:p><\/jats:sec>","DOI":"10.1002\/rmb2.12017","type":"journal-article","created":{"date-parts":[[2017,3,27]],"date-time":"2017-03-27T00:46:55Z","timestamp":1490575615000},"page":"81-88","source":"Crossref","is-referenced-by-count":59,"title":["Human male infertility and its genetic causes"],"prefix":"10.1002","volume":"16","author":[{"given":"Toshinobu","family":"Miyamoto","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Asahikawa Medical University  Asahikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaku","family":"Minase","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Asahikawa Medical University  Asahikawa 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